Antenatal Genetic Testing

When I bring up the subject of antenatal genetic testing, most of my patients don’t even bat an eye: it’s just what you do nowadays. Of course you want to know as much about your unborn and developing baby as possible! But there are some -just a few- who look at me suspiciously, searching for a reason I suggested it on their first visit. Do I suspect something is not quite right? Are they high risk? I can see the questions on their faces before they answer. The woman will look at her husband with a worried expression, and he will stare down at his shoes. The real question they are struggling with is: What will we do if the test comes out abnormal? Will we terminate the pregnancy -or perhaps even more troubling- will we have to?

No, I don’t think they fear some legal or medical attempt at coercion for termination. I suspect some of them had not even  considered the possibility of an abnormal fetus. Why would they? After all, does one consider the possibility of an accident every time one gets in a car? Or crosses the street..? It is, in other words, a surprise that anyone would confront them with the risks. It’s supposed to be a happy time, a new life, a new journey. I think that what many of them fear is the unspoken assumption that if there is an abnormality, they will want to terminate: an expectation, not a requirement.

Societal expectations are stronger than we realize. It’s often only when we dare to run contrary to them that we feel the strength of the current. Try shopping in a grocery store with a wheelbarrow rather than the supplied shopping cart, or maybe less fancifully, showing up at an expensive restaurant wearing a tee-shirt. You can do either of these things without getting arrested, but would you? Would you whistle at the symphony? Society’s pressures may be subtle, but they are compelling; we are supposed to know what to do and then do it.

There are other pressures to conform that are sometimes even more difficult to spot. A recent study in one of my medical journals looked at how information for patients with abnormal genetic screening (blood tests, ultrasounds, or amniocentesis) was presented. Discussions about Down Syndrome in literature handed out to patients undergoing genetic screening, for example, were purportedly neutral to allow for untainted management choice options. But the information stressed the problems the Down syndrome child would encounter and the problems the parents would confront rather than -and not balanced by, say, the joys any parent might expect raising such a child -any child. At first glance, this seems beyond reproach: the parents need to know what to expect. And yet, if you read a pamphlet on a car you were considering purchasing, and it merely talked of its problems, what’s the chance you’d turn it down and look elsewhere?

Objectively considered, antenatal testing for all of its advantages, could be seen as a type of Eugenics process. Don’t get me wrong, I’m totally Pro Choice: the couple -the woman– should have the right of choice and no one else! And yet I’m struck by the attitude of many in the profession who seem to assume that antenatal screening is there to assure the parents of a good product. And if what it finds is something different -note the word different, as opposed to substandard, or even defective- well then… We are doctors and by definition we deal with health problems -illness, pain, suffering- and we see the world in those terms. It is hard to put that prejudice aside in counselling as much as we might wish. We, too, are affected by the societal currents. Just look at the difficulty we have -we all have- in dealing with expectations or even medical practice models in other cultures less like our own.

And it is difficult to transcend these, try as we might. We are the creations of our own society and its customs and expectations. We are what we have been accustomed to believe, and non-believers often seem odd, even alien. More often, however, we see them as simply being wrong and assume they need to be corrected. Or we convey in our words or expressions that it is their values that are at fault. And yet all choices are value-laden -even ours.

I don’t know that we can ever shed our cultural -our societal- heritage nor that we should even consider this necessary. But a heritage is a wealth of accumulated -and accumulating- customs, values and opinions. It is an ever-expanding, ever-changing treasure that defines who we are and what we think. It is never static, never ossified; and like a parent, should be open-armed, forgiving, and all-encompassing. It is how I would like to counsel those parents before they even receive their results -before they even decide whether or not to be tested.

In a way, it is me that is being tested.


One thought on “Antenatal Genetic Testing

  1. […] I think it’s about time I revisited the concept of ‘disability’, both in its description and in society at large. It seems to me that the word itself is too value-laden to accept at face value. We are all disabled in one way or another and yet we may not see ourselves like that. And why should we? Disability, like beauty, is in the eye of the beholder –or in this case, the beheld. I first wrote about this several years ago: […]


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